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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA155228548
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs755098490
MyVariant Identifiers:
chr7:g.22756283_22756284insTG (hg19)
chr7:g.22716664_22716665insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716665_22716666insGT , CM000669.2:g.22716665_22716666insGT
GRCh38
NC_000007.13:g.22756284_22756285insGT , CM000669.1:g.22756284_22756285insGT
GRCh37
NC_000007.12:g.22722809_22722810insGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650428.1:n.46+10903_46+10904insCA
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